Canonical Allele Identifier: CA316320980

Gene: GNAS

Linked Data

• dbSNP Id: rs907017474
• gnomAD v3: 20-58892123-GTCTC-G
• gnomAD v4: 20-58892123-GTCTC-G
• MyVariant Identifiers: chr20:g.57467179_57467182del (hg19) ; chr20:g.58892124_58892127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58892129_58892132del , CM000682.2:g.58892129_58892132del	GRCh38
NC_000020.10:g.57467184_57467187del , CM000682.1:g.57467184_57467187del	GRCh37
NC_000020.9:g.56900579_56900582del	NCBI36
NG_016194.1:g.57390_57393del
NG_016194.2:g.57390_57393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2069-3483_2069-3480del	ENSP00000265621.6:n.2069-3483_2069-3480del
ENST00000419558.7:c.*43-3483_*43-3480del	ENSP00000416234.2:n.*43-3483_*43-3480del
ENST00000423897.7:c.2069-3483_2069-3480del	ENSP00000412356.2:n.2069-3483_2069-3480del
ENST00000453292.7:c.781-3483_781-3480del	ENSP00000392000.2:n.781-3483_781-3480del
ENST00000462499.6:c.-38-3483_-38-3480del	ENSP00000499758.2:n.-38-3483_-38-3480del
ENST00000464624.7:c.2160-3483_2160-3480del	ENSP00000499607.2:n.2160-3483_2160-3480del
ENST00000464788.6:c.-39+2916_-39+2919del	ENSP00000499239.2:n.-39+2916_-39+2919del
ENST00000467227.6:c.-38-3483_-38-3480del	ENSP00000499681.2:n.-38-3483_-38-3480del
ENST00000467321.6:c.-39+3083_-39+3086del	ENSP00000499523.2:n.-39+3083_-39+3086del
ENST00000468895.6:c.139+264_139+267del	ENSP00000499551.2:n.139+264_139+267del
ENST00000469431.6:c.-39+2723_-39+2726del	ENSP00000499654.2:n.-39+2723_-39+2726del
ENST00000470512.6:c.-39+2776_-39+2779del	ENSP00000499552.2:n.-39+2776_-39+2779del
ENST00000472183.6:c.-38-3483_-38-3480del	ENSP00000499673.2:n.-38-3483_-38-3480del
ENST00000476935.6:c.-119_-116del	ENSP00000499409.2:n.-119_-116del
ENST00000478585.6:c.-39+2776_-39+2779del	ENSP00000499762.2:n.-39+2776_-39+2779del
ENST00000480232.6:c.-39+2580_-39+2583del	ENSP00000499545.2:n.-39+2580_-39+2583del
ENST00000481039.6:c.-39+3221_-39+3224del	ENSP00000499767.2:n.-39+3221_-39+3224del
ENST00000482112.6:c.-38-3483_-38-3480del	ENSP00000499794.2:n.-38-3483_-38-3480del
ENST00000485673.6:c.-39+2580_-39+2583del	ENSP00000499334.2:n.-39+2580_-39+2583del
ENST00000488546.6:c.-39+3311_-39+3314del	ENSP00000499332.2:n.-39+3311_-39+3314del
ENST00000488652.6:c.-119_-116del	ENSP00000499435.2:n.-119_-116del
ENST00000492907.6:c.-119_-116del	ENSP00000499443.2:n.-119_-116del
ENST00000604005.6:c.-39+2797_-39+2800del	ENSP00000474219.2:n.-39+2797_-39+2800del
ENST00000663479.2:c.-38-3483_-38-3480del	ENSP00000499353.2:n.-38-3483_-38-3480del
ENST00000667293.2:c.-39+3225_-39+3228del	ENSP00000499293.2:n.-39+3225_-39+3228del
ENST00000676826.2:c.2069-3483_2069-3480del	ENSP00000504675.2:n.2069-3483_2069-3480del
ENST00000682803.1:c.-366+264_-366+267del	ENSP00000507069.1:n.-366+264_-366+267del
ENST00000683015.1:c.909+1340_909+1343del	ENSP00000506815.1:n.909+1340_909+1343del
ENST00000306090.12:c.44-3483_44-3480del	ENSP00000304472.12:n.44-3483_44-3480del
ENST00000338783.7:c.139+264_139+267del	ENSP00000345971.7:n.139+264_139+267del
ENST00000349036.8:c.2069-3483_2069-3480del	ENSP00000265621.5:n.2069-3483_2069-3480del
ENST00000354359.12:c.139+264_139+267del	ENSP00000346328.7:n.139+264_139+267del
ENST00000371085.8:c.139+264_139+267del MANE Select	ENSP00000360126.3:n.139+264_139+267del
ENST00000371100.9:c.2069-3483_2069-3480del MANE Plus Clinical	ENSP00000360141.3:n.2069-3483_2069-3480del
ENST00000419558.6:c.*43-3483_*43-3480del	ENSP00000416234.2:n.*43-3483_*43-3480del
ENST00000423897.6:c.2069-3483_2069-3480del	ENSP00000412356.2:n.2069-3483_2069-3480del
ENST00000453292.6:c.*43-3483_*43-3480del	ENSP00000392000.2:n.*43-3483_*43-3480del
ENST00000461152.6:c.909+1340_909+1343del	ENSP00000499274.1:n.909+1340_909+1343del
ENST00000481768.6:c.2227-3483_2227-3480del	ENSP00000499644.2:n.2227-3483_2227-3480del
ENST00000490374.6:n.223-3483_223-3480del
ENST00000657090.1:c.-38-3483_-38-3480del	ENSP00000499380.1:n.-38-3483_-38-3480del
ENST00000663479.1:c.-38-3483_-38-3480del	ENSP00000499353.1:n.-38-3483_-38-3480del
ENST00000667293.1:c.11-3483_11-3480del	ENSP00000499293.1:n.11-3483_11-3480del
ENST00000676826.1:c.2069-3483_2069-3480del	ENSP00000504675.1:n.2069-3483_2069-3480del
ENST00000265620.11:c.139+264_139+267del	ENSP00000265620.7:n.139+264_139+267del
ENST00000306090.11:c.93+310_93+313del	ENSP00000304472.11:n.93+310_93+313del
ENST00000313949.11:c.*43-3483_*43-3480del	ENSP00000323571.7:n.*43-3483_*43-3480del
ENST00000338783.6:c.106+264_106+267del	ENSP00000345971.6:n.106+264_106+267del
ENST00000349036.7:c.188-3483_188-3480del	ENSP00000265621.4:n.188-3483_188-3480del
ENST00000354359.11:c.139+264_139+267del	ENSP00000346328.7:n.139+264_139+267del
ENST00000371075.7:c.*43-3483_*43-3480del MANE Plus Clinical	ENSP00000360115.3:n.*43-3483_*43-3480del
ENST00000371081.5:c.139+264_139+267del	ENSP00000360122.1:n.139+264_139+267del
ENST00000371085.7:c.139+264_139+267del	ENSP00000360126.3:n.139+264_139+267del
ENST00000371095.7:c.139+264_139+267del	ENSP00000360136.3:n.139+264_139+267del
ENST00000371098.6:c.*43-3483_*43-3480del	ENSP00000360139.2:n.*43-3483_*43-3480del
ENST00000371100.8:c.2069-3483_2069-3480del	ENSP00000360141.3:n.2069-3483_2069-3480del
ENST00000371102.8:c.2069-3483_2069-3480del	ENSP00000360143.4:n.2069-3483_2069-3480del
ENST00000419558.5:c.384-3483_384-3480del
ENST00000423897.5:c.157-3483_157-3480del
ENST00000450130.5:c.228-3483_228-3480del
ENST00000453292.5:c.544-3483_544-3480del	ENSP00000392000.1:n.544-3483_544-3480del
ENST00000461152.5:n.147+1340_147+1343del
ENST00000462499.5:n.259-3483_259-3480del
ENST00000464624.6:n.2355+264_2355+267del
ENST00000464788.5:n.67+2916_67+2919del
ENST00000464960.5:n.406+3311_406+3314del
ENST00000467227.5:n.123-3483_123-3480del
ENST00000467321.5:n.154+3083_154+3086del
ENST00000468895.5:n.50+3221_50+3224del
ENST00000469431.5:n.256+2723_256+2726del
ENST00000470512.5:n.210+2776_210+2779del
ENST00000472183.5:n.392-3483_392-3480del
ENST00000476935.5:n.93_96del
ENST00000477931.5:n.254+2776_254+2779del
ENST00000478585.5:n.194+2776_194+2779del
ENST00000480232.5:n.155+2580_155+2583del
ENST00000480975.5:n.183+2776_183+2779del
ENST00000481039.5:n.56+3225_56+3228del
ENST00000481768.5:n.1324-3483_1324-3480del
ENST00000482112.5:n.259-3483_259-3480del
ENST00000484504.5:n.127+2776_127+2779del
ENST00000485673.5:n.426+2580_426+2583del
ENST00000488546.5:n.40+3311_40+3314del
ENST00000488652.5:n.149_152del
ENST00000490374.5:n.255-3483_255-3480del
ENST00000491348.5:n.534-3483_534-3480del
ENST00000492907.5:n.52_55del
ENST00000493744.5:n.233-3483_233-3480del
ENST00000604005.5:c.-39+2797_-39+2800del	ENSP00000474219.1:n.-39+2797_-39+2800del
NM_000516.4:c.139+264_139+267del	NP_000507.1:n.139+264_139+267del
NM_000516.5:c.139+264_139+267del	NP_000507.1:n.139+264_139+267del
NM_001077488.2:c.139+264_139+267del	NP_001070956.1:n.139+264_139+267del
NM_001077488.3:c.139+264_139+267del	NP_001070956.1:n.139+264_139+267del
NM_001077489.2:c.139+264_139+267del	NP_001070957.1:n.139+264_139+267del
NM_001077489.3:c.139+264_139+267del	NP_001070957.1:n.139+264_139+267del
NM_001077490.1:c.*1-3483_*1-3480del	NP_001070958.1:n.*1-3483_*1-3480del
NM_001077490.2:c.*1-3483_*1-3480del	NP_001070958.1:n.*1-3483_*1-3480del
NM_001309840.1:c.-39+2776_-39+2779del	NP_001296769.1:n.-39+2776_-39+2779del
NM_001309842.1:c.139+264_139+267del	NP_001296771.1:n.139+264_139+267del
NM_001309861.1:c.-38-3483_-38-3480del	NP_001296790.1:n.-38-3483_-38-3480del
NM_001309883.1:c.*159-3483_*159-3480del	NP_001296812.1:n.*159-3483_*159-3480del
NM_016592.2:c.*43-3483_*43-3480del	NP_057676.1:n.*43-3483_*43-3480del
NM_016592.3:c.*43-3483_*43-3480del	NP_057676.1:n.*43-3483_*43-3480del
NM_080425.2:c.2069-3483_2069-3480del	NP_536350.2:n.2069-3483_2069-3480del
NM_080425.3:c.2069-3483_2069-3480del	NP_536350.2:n.2069-3483_2069-3480del
NM_080426.2:c.139+264_139+267del	NP_536351.1:n.139+264_139+267del
NM_080426.3:c.139+264_139+267del	NP_536351.1:n.139+264_139+267del
NR_003259.1:c.-4294967067+2776_-4294967067+2779del
NR_132273.1:n.406+3311_406+3314del
XM_017027812.2:c.2069-3483_2069-3480del	XP_016883301.1:n.2069-3483_2069-3480del
XM_017027813.2:c.2069-3483_2069-3480del	XP_016883302.1:n.2069-3483_2069-3480del
XM_017027814.2:c.2069-3483_2069-3480del	XP_016883303.1:n.2069-3483_2069-3480del
XM_017027815.1:c.44-3483_44-3480del	XP_016883304.1:n.44-3483_44-3480del
XM_017027816.1:c.-166+264_-166+267del	XP_016883305.1:n.-166+264_-166+267del
XM_017027817.1:c.-39+2776_-39+2779del	XP_016883306.1:n.-39+2776_-39+2779del
XM_017027818.2:c.-119_-116del	XP_016883307.1:n.-119_-116del
XM_017027819.1:c.-39+2797_-39+2800del	XP_016883308.1:n.-39+2797_-39+2800del
XM_017027821.1:c.*43-3483_*43-3480del	XP_016883310.1:n.*43-3483_*43-3480del
XM_017027822.1:c.*43-3483_*43-3480del	XP_016883311.1:n.*43-3483_*43-3480del
XM_024451872.1:c.44-3483_44-3480del	XP_024307640.1:n.44-3483_44-3480del
XM_024451875.1:c.-39+2797_-39+2800del	XP_024307643.1:n.-39+2797_-39+2800del
XR_002958471.1:n.764+264_764+267del
NM_000516.6:c.139+264_139+267del	NP_000507.1:n.139+264_139+267del
NM_001077488.4:c.139+264_139+267del	NP_001070956.1:n.139+264_139+267del
NM_001077489.4:c.139+264_139+267del	NP_001070957.1:n.139+264_139+267del
NM_001309840.2:c.-39+2776_-39+2779del	NP_001296769.1:n.-39+2776_-39+2779del
NM_001309842.2:c.139+264_139+267del	NP_001296771.1:n.139+264_139+267del
NM_001309861.2:c.-38-3483_-38-3480del	NP_001296790.1:n.-38-3483_-38-3480del
NM_016592.4:c.*43-3483_*43-3480del	NP_057676.1:n.*43-3483_*43-3480del
NM_080426.4:c.139+264_139+267del	NP_536351.1:n.139+264_139+267del
NM_000516.7:c.139+264_139+267del MANE Select	NP_000507.1:n.139+264_139+267del
NM_001077488.5:c.139+264_139+267del	NP_001070956.1:n.139+264_139+267del
NM_001077490.3:c.*1-3483_*1-3480del	NP_001070958.1:n.*1-3483_*1-3480del
NM_016592.5:c.*43-3483_*43-3480del MANE Plus Clinical	NP_057676.1:n.*43-3483_*43-3480del
NM_080425.4:c.2069-3483_2069-3480del MANE Plus Clinical	NP_536350.2:n.2069-3483_2069-3480del